D5Y (p.Asp5Tyr) variant of PURA (Q00577)
D5Y (p.Asp5Tyr) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
D5Y (p.Asp5Tyr) variant details
- p.Asp5Tyr
- gnomAD 5-140114194-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 24.00
- PolyPhen-2 0.20
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available